title: Associations between single nucleotide polymorphisms of MMP2, VEGF, and HIF1A genes and the risk of developing colorectal cancer.
abstract: The aim of this study was to investigate the association between the risk for colorectal cancer and single nucleotide polymorphisms (SNP) of matrix metalloproteinase-2 (MMP2) -1306C/T, vascular endothelial growth factor (VEGF) 936C/T and hypoxia inducible factor-1α (HIF1A) 1772C/T.
  
  
  METHODS
  A total 50 colorectal cancer patients (46% women, mean age 68 ± 11 years) were enrolled. Healthy controls without evidence of cancer history or family cancer predispositions were frequency-matched to the cases by sex and age (±5 years). Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and the genotype distribution and risk estimate were analyzed. The correlation between the genotypes and clinicopathological parameters (Dukes stage, phenotype, location, differentiation and size) among colorectal cancer patients were investigated.
  
  
  RESULTS
  There was a significant association between colorectal cancer and T allele-bearing genotype distribution of HIF1A 1772C/T polymorphism (Odds ratio, OR=3.63, 95% confidence interval, CI = 1.08-12.18, p = 0.03 for CT and TT genotypes relative to CC genotype). In addition, when stratified by age, the association remained in patients older than 60 years old (OR = 13.60, 95% CI = 1.63-113.24, p = 0.01). However, there was no association between the genotypes of the MMP2, VEGF and HIF1A SNP and clinicopathological parameters of colorectal cancer.
  
  
  CONCLUSIONS
  There is a significant association between the HIF1A 1772C/T SNP and the risk of developing colorectal cancer, especially in individuals older than 60 years.
authors.affiliation: Department of Internal Medicine, Ewha Medical Research Institute, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kang
authors.forename: Sung-Ae
authors.initials: SA
authors.lastname: Jung
authors.forename: Ji Min
authors.initials: JM
authors.lastname: Jung
authors.forename: Seong-Eun
authors.initials: SE
authors.lastname: Kim
authors.forename: Hye-Kyung
authors.initials: HK
authors.lastname: Jung
authors.forename: Tae-Hun
authors.initials: TH
authors.lastname: Kim
authors.forename: Ki-Nam
authors.initials: KN
authors.lastname: Shim
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Yi
authors.forename: Kwon
authors.initials: K
authors.lastname: Yoo
authors.forename: Il Hwan
authors.initials: IH
authors.lastname: Moon
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
chemical_list: C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2